Canonical Allele Identifier: CA414844757
Gene: KDM5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708062G>A , CM000686.2:g.19708062G>A GRCh38
NC_000024.9:g.21869948G>A , CM000686.1:g.21869948G>A GRCh37
NC_000024.8:g.20329336G>A NCBI36
NG_032920.1:g.41878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3271C>T MANE Select ENSP00000322408.4:p.Pro1091Ser
ENST00000317961.8:c.3271C>T ENSP00000322408.4:p.Pro1091Ser
ENST00000382806.6:c.3100C>T ENSP00000372256.2:p.Pro1034Ser
ENST00000415360.1:c.187C>T ENSP00000389433.1:p.Pro63Ser
ENST00000440077.5:c.3148C>T ENSP00000398543.1:p.Pro1050Ser
ENST00000469599.6:n.1869C>T
ENST00000492117.1:n.3163C>T
ENST00000541639.5:c.3364C>T ENSP00000444293.1:p.Pro1122Ser
NM_001146705.1:c.3364C>T NP_001140177.1:p.Pro1122Ser
NM_001146706.1:c.3100C>T NP_001140178.1:p.Pro1034Ser
NM_004653.4:c.3271C>T NP_004644.2:p.Pro1091Ser
XM_005262560.1:c.3136C>T XP_005262617.1:p.Pro1046Ser
XM_005262561.1:c.3040C>T XP_005262618.1:p.Pro1014Ser
XM_011531468.1:c.3193C>T XP_011529770.1:p.Pro1065Ser
XR_244571.2:n.3559C>T
XR_430568.2:n.3893C>T
XM_005262560.3:c.3136C>T XP_005262617.1:p.Pro1046Ser
XM_005262561.3:c.3040C>T XP_005262618.1:p.Pro1014Ser
XM_011531468.3:c.3193C>T XP_011529770.1:p.Pro1065Ser
XM_024452495.1:c.1261C>T XP_024308263.1:p.Pro421Ser
XM_024452496.1:c.1027C>T XP_024308264.1:p.Pro343Ser
XR_001756009.2:n.4009C>T
XR_001756010.2:n.4009C>T
XR_001756011.2:n.3874C>T
XR_001756012.2:n.4022C>T
XR_001756013.2:n.3340C>T
XR_002958832.1:n.3441C>T
XR_002958834.1:n.3665C>T
XR_002958835.1:n.3548C>T
XR_002958836.1:n.4231C>T
XR_002958837.1:n.4038C>T
XR_244571.4:n.3558C>T
XR_430568.4:n.3892C>T
NM_001146706.2:c.3100C>T NP_001140178.1:p.Pro1034Ser
NM_004653.5:c.3271C>T MANE Select NP_004644.2:p.Pro1091Ser
NM_001146705.2:c.3364C>T NP_001140177.1:p.Pro1122Ser